Robert Nussbaum, MD

Medical geneticist

Dr. Robert L. Nussbaum, a board certified internist and medical geneticist, specializes in the care of adults with hereditary disorders. He is chief of Genomic Medicine at UCSF Medical Center and co-director of the Program in Cardiovascular Genetics at the UCSF Heart and Vascular Center, which cares for patients with inherited disorders of heart muscle, heart rhythm and large arteries, such as the aorta.

Nussbaum is a member of the UCSF Institute for Human Genetics, where he is studying if and how genetic and genomic information can be used to improve health care by improving outcomes, reducing adverse reactions, lowering costs and promoting health through risk education. He also conducts research on Parkinson disease to understand what causes the disorder and develop treatments to prevent, slow or stop its progression. Nussbaum, a member of the Institute of Medicine, was co-discoverer of the first inherited form of Parkinson's disease. He has since been working to identify other inherited forms of the disease through family studies. Although inherited forms of the disease are rare, the mechanisms of hereditary can provide insight in processes that may be involved in more common forms. Prior to joining UCSF, Nussbaum was chief of the Genetic Disease Research Branch of the National Human Genome Research Institute, one of the National Institutes of Health.

Clinics

Cancer Genetics and Prevention Program at Mission Bay
1825 Fourth St., Fourth Floor
San Francisco, CA 94158
Phone: (415) 885-7779
Fax: (415) 885-3787

Hours: Monday to Friday
9 a.m. – 5 p.m.

Cardiovascular Genetics Program
400 Parnassus Avenue, Plaza Level, Room 94
San Francisco, CA 94143
Phone: (415) 353-2873
Fax: (415) 476-5355

Hours: Monday
noon – 4 p.m

Cancer Genetics and Prevention Program at Mount Zion
1600 Divisadero St., Second Floor
San Francisco, CA 94143-1714
Phone: (415) 885-7779
Fax: (415) 885-3787

Hours: Monday to Friday
9 a.m. – 5 p.m.

Conditions & Treatments

Board Certification

Clinical Molecular Genetics, American Board of Medical Genetics

Academic Title

Clinical Professor

More about Robert Nussbaum

Additional Languages

French

Education

Harvard Medical School 1975

Residencies

Barnes-Jewish Hospital, Internal Medicine 1978

Fellowships

Baylor College of Medicine, Medical Genetics 1981

Selected Research and Publications

  1. Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 Feb 15.
  2. Iacoboni D, Lynch K, Esplin ED, Nussbaum RL. Conflicts of interest in genetic counseling: addressing and delivering. Genet Med. 2018 Jan 04.
  3. Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genet Med. 2018 Jan 04.
  4. Weile J, Sun S, Cote AG, Knapp J, Verby M, Mellor JC, Wu Y, Pons C, Wong C, van Lieshout N, Yang F, Tasan M, Tan G, Yang S, Fowler DM, Nussbaum R, Bloom JD, Vidal M, Hill DE, Aloy P, Roth FP. A framework for exhaustively mapping functional missense variants. Mol Syst Biol. 2017 Dec 21; 13(12):957.
  5. Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar. Genet Med. 2018 Feb; 20(2):282.
  6. Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Genet. 2017 Dec; 49(12):1767-1778.
  7. Chandra R, Hiniker A, Kuo YM, Nussbaum RL, Liddle RA. a-Synuclein in gut endocrine cells and its implications for Parkinson's disease. JCI Insight. 2017 Jun 15; 2(12).
  8. Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. Sources of discordance among germ-line variant classifications in ClinVar. Genet Med. 2017 Oct; 19(10):1118-1126.
  9. Tomlinson JJ, Shutinoski B, Dong L, Meng F, Elleithy D, Lengacher NA, Nguyen AP, Cron GO, Jiang Q, Roberson ED, Nussbaum RL, Majbour NK, El-Agnaf OM, Bennett SA, Lagace DC, Woulfe JM, Sad S, Brown EG, Schlossmacher MG. Holocranohistochemistry enables the visualization of a-synuclein expression in the murine olfactory system and discovery of its systemic anti-microbial effects. J Neural Transm (Vienna). 2017 Jun; 124(6):721-738.
  10. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2017 May; 19(5):606.
  11. Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL. Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories. JCO Precis Oncol. 2017 Jul; 1.
  12. Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet. 2017 May; 49(5):680-691.
  13. Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell. 2017 Mar 23; 169(1):6-12.
  14. Nussbaum RL. Genetics of Synucleinopathies. Cold Spring Harb Perspect Med. 2017 Feb 17.
  15. Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT. Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet. 2017 04; 25(4):432-438.
  16. Nussbaum RL, Yang S, Lincoln SE. Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes. J Clin Oncol. 2017 Apr 10; 35(11):1259-1261.
  17. Nussbaum RL. The Identification of Alpha-Synuclein as the First Parkinson Disease Gene. J Parkinsons Dis. 2017; 7(s1):S45-S51.
  18. Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S. Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. J Am Soc Nephrol. 2017 May; 28(5):1399-1407.
  19. Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K, Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A, Barjhoux L, Barrowdale D, Benitez J, Berthet P, Blok MJ, Bobolis K, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caligo MA, Chiquette J, Chung WK, Claes KB, Daly MB, Damiola F, Davidson R, De la Hoya M, De Leeneer K, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Eccles D, Eeles R, Einbeigi Z, Ejlertsen B. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat. 2017 01; 161(1):117-134.
  20. Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nat Commun. 2016 Sep 07; 7:12675.

Publications are derived from MEDLINE/PubMed and provided by UCSF Profiles, a service of the Clinical & Translational Science Institute (CTSI) at UCSF. Researchers can make corrections and additions to their publications by logging on to UCSF Profiles.